ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, spondylocheirodysplastic type by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_152264.4(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_152264.4(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_152264.4(SLC39A13):c.492G>T (p.Ala164=) rs149634596
NM_152264.4(SLC39A13):c.615C>G (p.Pro205=) rs147495812
NM_152264.4(SLC39A13):c.78C>A (p.Leu26=) rs140844921

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